Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs111401431
rs111401431
FBN1
0.763 0.200 15 48468097 missense variant G/A snv
CUI: C3541518
Disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT 		0.800 0
dbSNP: rs113393517
rs113393517
FBN1
1.000 0.160 15 48481660 missense variant C/A;G snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.710 1.000 0 2000 2000
dbSNP: rs113422242
rs113422242
FBN1
0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.710 1.000 0 2000 2000
dbSNP: rs137854478
rs137854478
FBN1
0.851 0.160 15 48488233 missense variant C/T snv
CUI: C4016054
Disease: Neonatal Marfan syndrome
Neonatal Marfan syndrome 		0.710 1.000 0 2017 2017
dbSNP: rs794728249
rs794728249
FBN1
0.925 0.160 15 48437039 missense variant C/T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.710 1.000 0 2010 2010
dbSNP: rs1052480459
rs1052480459
FBN1
0.925 0.160 15 48437837 stop gained C/A;G snv 7.0E-06
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 0
dbSNP: rs1052480459
rs1052480459
FBN1
0.925 0.160 15 48437837 stop gained C/A;G snv 7.0E-06
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs1057518809
rs1057518809
FBN1
0.925 0.160 15 48425795 missense variant T/C snv
CUI: C0265004
Disease: Dilatation of aorta
Dilatation of aorta 		0.700 0
dbSNP: rs1057518809
rs1057518809
FBN1
0.925 0.160 15 48425795 missense variant T/C snv
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 0
dbSNP: rs1057518809
rs1057518809
FBN1
0.925 0.160 15 48425795 missense variant T/C snv
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta 		0.700 0
dbSNP: rs1057518809
rs1057518809
FBN1
0.925 0.160 15 48425795 missense variant T/C snv
CUI: C1836653
Disease: Ascending aortic dissection
Ascending aortic dissection 		0.700 0
dbSNP: rs1057518812
rs1057518812
FBN1
0.827 0.240 15 48430742 missense variant T/A snv
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.700 0
dbSNP: rs1057518812
rs1057518812
FBN1
0.827 0.240 15 48430742 missense variant T/A snv
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs1057518812
rs1057518812
FBN1
0.827 0.240 15 48430742 missense variant T/A snv
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		0.700 0
dbSNP: rs1057518812
rs1057518812
FBN1
0.827 0.240 15 48430742 missense variant T/A snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.700 0
dbSNP: rs1057518812
rs1057518812
FBN1
0.827 0.240 15 48430742 missense variant T/A snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs1057518812
rs1057518812
FBN1
0.827 0.240 15 48430742 missense variant T/A snv
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.700 0
dbSNP: rs1057518881
rs1057518881
FBN1
0.827 0.200 15 48513656 missense variant C/A;G;T snv
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs1057518881
rs1057518881
FBN1
0.827 0.200 15 48513656 missense variant C/A;G;T snv
CUI: C0241240
Disease: Tall stature
Tall stature 		0.700 0
dbSNP: rs1057518881
rs1057518881
FBN1
0.827 0.200 15 48513656 missense variant C/A;G;T snv
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		0.700 0
dbSNP: rs1057518881
rs1057518881
FBN1
0.827 0.200 15 48513656 missense variant C/A;G;T snv
CUI: C0023316
Disease: Lens Subluxation
Lens Subluxation 		0.700 0
dbSNP: rs1057518883
rs1057518883
FBN1
0.851 0.240 15 48415571 missense variant A/C snv
CUI: C0409495
Disease: Protrusio acetabuli
Protrusio acetabuli 		0.700 0
dbSNP: rs1057518883
rs1057518883
FBN1
0.851 0.240 15 48415571 missense variant A/C snv
CUI: C0241240
Disease: Tall stature
Tall stature 		0.700 0
dbSNP: rs1057518883
rs1057518883
FBN1
0.851 0.240 15 48415571 missense variant A/C snv
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding 		0.700 0
dbSNP: rs1057518883
rs1057518883
FBN1
0.851 0.240 15 48415571 missense variant A/C snv
CUI: C0026266
Disease: Mitral Valve Insufficiency
Mitral Valve Insufficiency 		0.700 0